Hermansky–Pudlak syndrome type 4 with interstitial pneumonia

Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal accumulation of ceroid-like material, with occasional development of interstitial pneumonia (IP). Nine genetically distinct subtypes of HPS are known in human...

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Autors principals: Sakata, Yoshihiko, Kawamura, Kodai, Ichikado, Kazuya, Suga, Moritaka, Yoshioka, Masakazu
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2013
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3949545/
https://ncbi.nlm.nih.gov/pubmed/26029628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.rmcr.2013.04.002
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